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Laboratory
Hyperthyroidism ( familial gestational or familial nonautoimmune, hypothyroidism, thyrotropin) - TSHR
TSHR
Familial hyperthyroidism due to mutations in TSH receptor
,
Hypothyroidism due to TSH receptor mutations
,
Familial gestational hyperthyroidism
Centre de Génétique Humaine - Erasme ULB
CYP2D6 genotyping (full gene sequencing + pseudogene and CNV analysis)- drug metabolism - Pharmacogenetics
CYP2D6
Codeine toxicity
,
Resistance to tamoxifene
,
Antidepressant or antipsychotic toxicity or dose selection
Centre de Génétique Médicale UCL
MODY : Maturity onset Diabete of the Young (gene panel)
ABCC8
,
GCK
,
HNF1A
,
HNF4A
,
HNF1B
,
INS
,
KCNJ11
MODY - Maturity onset Diabete of the Young (21 genes) - IPG
MODY
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (gene panel)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
MODY
Centrum Medische Genetica - UZ Antwerpen
Gaucher disease diagnostic (GBA gene sequencing)
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
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